{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:17:48Z","timestamp":1771471068920,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Clinical Neuroscience"],"published-print":{"date-parts":[[2010,12]]},"DOI":"10.1016\/j.jocn.2010.03.027","type":"journal-article","created":{"date-parts":[[2010,8,27]],"date-time":"2010-08-27T10:11:17Z","timestamp":1282903877000},"page":"1585-1587","source":"Crossref","is-referenced-by-count":5,"title":["Neuronal ceroid lipofuscinosis diagnosed via skin biopsy"],"prefix":"10.1016","volume":"17","author":[{"given":"Puja K.","family":"Puri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Leilani Valdes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Angelica Selim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rex C.","family":"Bentley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jocn.2010.03.027_bib1","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1080\/01913120500520986","article-title":"Skin biopsy is useful for the diagnosis of lysosomal storage diseases","volume":"30","author":"Alroy","year":"2006","journal-title":"Ultrastruct Pathol"},{"key":"10.1016\/j.jocn.2010.03.027_bib2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.jns.2006.09.021","article-title":"Progressive myoclonic epilepsy: a clinical, electrophysiological and pathological study from south India","volume":"252","author":"Sinha","year":"2002","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jocn.2010.03.027_bib3","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1055\/s-2007-973653","article-title":"Batten disease, a twenty-eight year struggle, past, present and future","volume":"28","author":"Rider","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jocn.2010.03.027_bib4","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1007\/s100720070040","article-title":"Neuronal ceroid lipofuscinosis: research update","volume":"21","author":"Wisniewski","year":"2000","journal-title":"Neurol Sci"},{"key":"10.1016\/j.jocn.2010.03.027_bib5","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1542\/peds.44.4.570","article-title":"Neuronal ceroid-lipofuscinosis (Batten\u2019s disease). Relationship to amaurotic family idiocy?","volume":"44","author":"Zeman","year":"1969","journal-title":"Pediatrics"},{"key":"10.1016\/j.jocn.2010.03.027_bib6","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s100720070041","article-title":"Neuronal ceroid lipofuscinosis: detection of atypical forms","volume":"21","author":"Nardocci","year":"2000","journal-title":"Neurol Sci"},{"key":"10.1016\/j.jocn.2010.03.027_bib7","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/376584a0","article-title":"Mutations in the palymitoyl-protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis","volume":"376","author":"Vesa","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.jocn.2010.03.027_bib8","first-page":"234","article-title":"Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis","volume":"54","author":"Rawlings","year":"1999","journal-title":"Clin Genet"},{"key":"10.1016\/j.jocn.2010.03.027_bib9","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1007\/s100720070036","article-title":"Biochemical aspects of neuronal ceroid lipofuscinoses","volume":"21","author":"Tyynela","year":"2000","journal-title":"Neurol Sci"},{"key":"10.1016\/j.jocn.2010.03.027_bib10","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/ana.20187","article-title":"Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant","volume":"56","author":"Schulz","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jocn.2010.03.027_bib11","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jocn.2010.03.027_bib12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp.4.3-4.175","article-title":"A congenital form of amaurotic family idiocy","volume":"4","author":"Norman","year":"1941","journal-title":"J Neurol Psychiat"},{"key":"10.1016\/j.jocn.2010.03.027_bib13","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1007\/s100720070037","article-title":"Morphological aspects of the neuronal ceroid lipofuscinoses","volume":"21","author":"Goebel","year":"2000","journal-title":"Neurol Sci"},{"key":"10.1016\/j.jocn.2010.03.027_bib14","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320420428","article-title":"Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinosis (Batten disease)","volume":"42","author":"Palmer","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jocn.2010.03.027_bib15","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1097\/00005072-199704000-00005","article-title":"Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry","volume":"56","author":"Tyynela","year":"1997","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.jocn.2010.03.027_bib16","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1750-3639.2000.tb00255.x","article-title":"Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis","volume":"10","author":"Herva","year":"2000","journal-title":"Brain Pathol"},{"key":"10.1016\/j.jocn.2010.03.027_bib17","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/ajmg.1320310611","article-title":"Morphological diagnosis and misdiagnosis in Batten-Kufs disease","volume":"5","author":"Carpenter","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jocn.2010.03.027_bib18","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1001\/archderm.1987.01660360046011","article-title":"Skin biopsy for diagnosis of hereditary neurologic metabolic disease","volume":"123","author":"Carpenter","year":"1987","journal-title":"Arch Deratol"},{"key":"10.1016\/j.jocn.2010.03.027_bib19","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {9\/1\/2009}. World Wide Web URL: http:\/\/www.ncbi.nlm.nih.gov\/omim\/."}],"container-title":["Journal of Clinical Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096758681000295X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096758681000295X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T01:12:46Z","timestamp":1685754766000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096758681000295X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S096758681000295X"],"URL":"https:\/\/doi.org\/10.1016\/j.jocn.2010.03.027","relation":{},"ISSN":["0967-5868"],"issn-type":[{"value":"0967-5868","type":"print"}],"subject":[],"published":{"date-parts":[[2010,12]]}}}